Hereditary ataxia with onset in adulthood
Gene: TTBK2

TTBK2 (tau tubulin kinase 2)
EnsemblGeneIds (GRCh38): ENSG00000128881
EnsemblGeneIds (GRCh37): ENSG00000128881
OMIM: 611695, Gene2Phenotype
TTBK2 is in 9 panels

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

On Sheffield panel. 5 DM in HGMD.
Created: 27 Apr 2019, 7:39 p.m.

Created: 27 Apr 2019, 7:39 p.m.

Panel version: 1.11

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted by James Polke (Neurogenetics Laboratory, Institute of Neurology, London) on behalf of London North GLH for GMS Neurology specialist test group

Created: 27 Apr 2019, 8:55 p.m.

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Created: 15 Apr 2019, 10:21 a.m.

Panel version: 1.14

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Multiple families now in lit and positives in our cohort - looks like haploinsufficiency is predominant mechanism
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spinocerebellar ataxia 11, 604432

Variants in this GENE are reported as part of current diagnostic practice

Created: 15 Apr 2019, 10:06 a.m.

Panel version: 1.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

London North GLH
NHS GMS
Wessex and West Midlands GLH
Expert Review Green
Hereditary ataxia v1.148

Phenotypes

Spinocerebellar ataxia 11, 604432
Spinocerebellar ataxia 11

OMIM

611695

Clinvar variants

Variants in TTBK2

Penetrance

None

Panels with this gene